A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6540397



Internal ID20913688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44492310..44499919hg38UCSC Ensembl
chr21:45912193..45919802hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg387610
hg197610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204139
Samples
Known GenesTSPEAR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6540397
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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